{"Name":"Congenital Horner syndrome","DiseaseID__c":"GARD:0006670","id":6670,"encodedName":"congenital-horner-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Congenital Horner syndrome","Xref_IDs__c":"770626007; C1840475; C564178; HP:0006837; MEDGEN:327111; MONDO:0007735; OMIM:143000; ORPHA:91413","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007735","Disease_Description__c":"Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.","GARD_Name__c":"Congenital Horner syndrome","GARD_Synonym__c":"congenital claude bernard horner syndrome; congenital claude-bernard-horner syndrome; congenital horner syndrome (disease)","Curated_Disease_Description_Source__c":"GARD:0006670","Curated_Disease_Description__c":"Congenital Horner syndrome, also known as Horner's syndrome, is a rare condition characterized by miosis (constriction of the pupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It is caused by damage to the sympathetic nerves of the face. In rare cases, congenital Horner syndrome may be associated with a lack of pigmentation of the iris (colored part of the eye).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:91413","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007735","ORPHANET_ID__c":"ORPHA:91413","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de horner congénito","Spanish_Description_Source__c":"ORPHA:91413","Spanish_Description__c":"Es un trastorno neurológico poco frecuente caracterizado por miosis pupilar relativa y blefaroptosis patente al nacimiento. Está causado por la interrupción de la inervación oculosimpática en cualquier punto a lo largo de la vía neural desde el hipotálamo hasta la órbita ocular. También pueden estar presentes otros síntomas tales como enoftalmos, anhidrosis facial, heterocromía del iris, congestión conjuntival, hipotonía transitoria y/o retraso de la dilatación pupilar. Se ha descrito asociación con traumatismo al nacer, neoplasias o malformaciones vasculares.","Spanish_Disease_Name__c":"síndrome de horner congénito","Spanish_GARD_Synonym__c":"síndrome de claude-bernard-horner congénito","Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Congenital Horner syndrome, also known as Horner's syndrome, is a rare condition characterized by miosis (constriction of the pupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It is caused by damage to the sympathetic nerves of the face. In rare cases, congenital Horner syndrome may be associated with a lack of pigmentation of the iris (colored part of the eye).","Curated_Disease_Description_Source__c":"GARD:0006670","GARD_Synonym__c":"congenital claude bernard horner syndrome; congenital claude-bernard-horner syndrome; congenital horner syndrome (disease)","Name":"Congenital Horner syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Horner's Syndrome: Awareness, Action and Advocacy Foundation","Website__c":"https://hornerssyndromefoundation.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1840475","Source__c":"C1840475","Xref__c":"C1840475"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564178","Source__c":"MONDO:0007735","Xref__c":"C564178"},{"URL__c":"https://www.orpha.net/en/disease/detail/91413","Source__c":"C1840475; MONDO:0007735; ORPHA:91413","Xref__c":"ORPHA:91413"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=327111","Source__c":"C1840475","Xref__c":"MEDGEN:327111"},{"URL__c":"https://www.omim.org/entry/143000","Source__c":"C1840475; MONDO:0007735; ORPHA:91413","Xref__c":"OMIM:143000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770626007","Source__c":"C1840475","Xref__c":"770626007"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0006837","Source__c":"C1840475","Xref__c":"HP:0006837"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007735","Source__c":"GARD:0006670","Xref__c":"MONDO:0007735"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:143000","Feature__r":{"HPO_Description__c":"An eye that is more deeply recessed into the plane of the face than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000490","HPO_Synonym__c":"Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes","HPO_Name__c":"Deeply set eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:143000","Feature__r":{"HPO_Description__c":"Heterochromia iridis is a difference in the color of the iris in the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001100","HPO_Synonym__c":"Different colored eyes; Heterochromia irides","HPO_Name__c":"Heterochromia iridis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:143000","Feature__r":{"HPO_Description__c":"Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007451","HPO_Name__c":"Ipsilateral lack of facial sweating","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:143000","Feature__r":{"HPO_Description__c":"Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003470","HPO_Synonym__c":"Inability to move; Paralysis","HPO_Name__c":"Paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:143000","Feature__r":{"HPO_Description__c":"A type of Horner syndrome with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006837","HPO_Name__c":"Congenital Horner syndrome","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Anterior segment of Eye","Neuromuscular medicine"]},"synonyms":["congenital claude bernard horner syndrome"," congenital claude-bernard-horner syndrome"," congenital horner syndrome (disease)"]}